Well… I apologize for not sharing an official “Week 3” update from our NAPA trip! We were so very pleased with the results, and cannot believe the progress Blaise made in just three weeks, and continues to make at home.
When we came home from Boston- we immediately entered moving mode!!! And that has pretty much been what we have been doing until now! We are moving locally, and had to get out of our old house and move to an apartment while we wait for the renovation on our new home to be complete! I plan to share more about our house- but that is for another day!
Today, I want to talk about Blaise’s 6 month update. While Blaise is coming up on one year on the experimental aldose reductase inhibitor, AT-007, he has only been on full dose of the medication for 6 months. You can check previous posts if you want to learn more about this trial with a drug from Applied Therapeutics. Blaise has been making great progress , and has had several little “milestones” recently that I am very excited to share!
We have figured out recently that Blaise can count to 10, and is starting to use more two syllable words and multiple words to speak a sentence. For example- he saw his brother’s water bottle on the floor and told me “V wa-bah” ie- V’s water bottle! previously if he just saw a water bottle he simply said “wa”. He also could only drink out of a bottle or a straw, and I spied him actually drinking out of a plastic water bottle at V’s swimming lesson. Even though he has a little water coming out of the corner of his mouth, he actually manages to drink from the bottle without spilling it everywhere and swallow it! Woot woot!
Blaise has been doing AMAZING working on gross motor skills- including getting from the ground to standing, sitting to standing, opening doors, and doing much better in a gait trainer! While I don’t have a video, his PT mentioned that they were practicing sitting to standing and he stood on his own for 15 seconds!! This is a massive improvement from a year ago. He also can plant both feet from being seated on the ground and stand by himself- granted he only holds it reliably for a second or two. Often he gets distracted thinking standing and crashing is a game so we don’t hold for very long- but this is amazing. He also will stand up on his own and stand with his back against the wall. We are so happy with these improvements! Again- a HUGE improvement from the boy who barely could pull to stand.
Blaise is also becoming more interested in walking in public places. This video of him pushing the grocery cart in his gait trainer. He was so proud of himself! Full disclosure- time #2 we did this he WAS NOT having it and did not make it far walking. Luckily Carl was there and could take him out to the car before a major meltdown! After that, the third time we went to the grocery store, I did not bring the gait trainer in. However- Blaise refused to sit in the cart. He looked at me and pointed to the ground and said “WA!” I said “You want to walk?” and he replied “YEAH!”. While it was THE SLOWEST trip EVER through the grocery store- it was definitely the most rewarding. Blaise walked pushing the cart with nothing but his AFOs and me providing the occasional catch and steering the cart. I would pick him up to grab things off of the shelves and he was so happy. Obviously- I have no video of this endeavor because my hands were full- but I will always remember it!
The cutest grocery shopper!
I also must share my excitement with how much progress he is making with walking (just in these past 6 months)! His usual gait trainer provides both trunk and seat support (he has what looks like a bike seat under him to make sure he doesn’t fall through). This week, his PT tried using a behind the body walker, with absolutely no support for trunk or seat. This is a GIANT milestone for him- and I know he will only improve from here. I wasn’t sure if Blaise would ever be strong enough to use a behind the body walker. This video makes a mama heart SO HAPPY, because if he is doing this at 3 years old- the sky is the limit!
I would also be remiss if I did not share how the “inside” of his body is working- which is super important!! To date, Blaise has received the medication, AT-007, which is an oral liquid once daily since August 2021. Not only have his labs indicated that the medication is safe for Blaise, we have seen positive trends in many of his labs, not to mention amazing weight gain! Of note- we believe Blaise had hand, foot, and mouth a few weeks ago. He had a fever for several days, and eventually developed rashes on his extremities. Blaise’s first ever hospitalization was in August 2020. He also have a fever for several days, required IV hydration, and we spent several days in the hospital. We later learned he had HHV6- a very common virus that usually kids are able to fight off, but it made him very, very ill. The fact that he was able to fight this off on his own without any additional intervention is a HUGE win, and I am so happy that in the future my first move after he has a confirmed fever doesn’t necessarily have to be to pack a hospital bag.
All in all- The last 6 months on full dose has been remarkable to watch. We are so proud of our Blaisey-Boo, so thankful for his geneticist Dr. Elizabeth Jalazo at UNC who has dedicated A LOT of her time to this trial, and of course, to Applied Therapeutics, for creating this medication and making this opportunity possible. We really hope Blaise’s experience paves the way for other kiddos to try this in the future!
